{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T11:34:51Z","timestamp":1776771291889,"version":"3.51.2"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T00:00:00Z","timestamp":1770681600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Congenital diaphragmatic hernia (CDH) is a rare condition, with many affected patients remaining asymptomatic, while others may present with non-specific respiratory manifestations. The coexistence of a CDH and a giant hiatal hernia is particularly uncommon. We report the case of a pediatric patient presenting with both a giant hiatal hernia and a CDH, accompanied by distinctive facial features. The initial presentation included poor oral intake and abnormal chest sounds, as observed by the patient's mother. A diagnostic evaluation using chest radiography and computed tomography confirmed the presence of both hernias. Subsequent genetic testing identified arterial tortuosity syndrome. The patient underwent primary surgical repair of both defects, along with partial fundoplication. The procedure was uneventful, and postoperative monitoring was carried out closely. Postoperatively, the patient developed dumping syndrome, which was successfully managed with octreotide. The patient demonstrated excellent clinical outcomes during follow-up.<\/jats:p>","DOI":"10.3389\/fped.2026.1750672","type":"journal-article","created":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T06:46:59Z","timestamp":1770706019000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["A giant hiatal hernia with a congenital diaphragmatic hernia in a pediatric patient with arterial tortuosity syndrome: a case report"],"prefix":"10.3389","volume":"14","author":[{"given":"Fatimah Jafer","family":"Almabyouq","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery, Imam Abdulrahman Bin Faisal University","place":["Dammam, Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zahrh Faisal","family":"Abualsaud","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Imam Abdulrahman Bin Faisal University","place":["Dammam, Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riyadh Mohammed Ali","family":"Alabbas","sequence":"additional","affiliation":[{"name":"Emergency Medicine Department, Dammam Medical Complex","place":["Dammam, Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,10]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1617","DOI":"10.7863\/jum.2007.26.11.1617","article-title":"Paradoxical movement of abdominal contents: a real-time sonographic finding indicating a congenital diaphragmatic hernia","volume":"26","author":"Sista","year":"2007","journal-title":"J Ultrasound Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"171","DOI":"10.14744\/nci.2018.58672","article-title":"Congenital hiatus hernia: a case series","volume":"6","author":"Baskin Embleton","year":"2019","journal-title":"North Clin Istanb"},{"key":"B3","first-page":"137","article-title":"Late presenting diaphragmatic hernia: clinical and diagnostic aspects","volume":"13","author":"Zaleska-Dorobisz","year":"2007","journal-title":"Med Sci Monit"},{"key":"B4","first-page":"178","article-title":"Large hiatal hernia in infancy with right intrathoracic stomach along with left sided Morgagni hernia.","volume":"24","author":"Saeed","year":"2014","journal-title":"J Coll Physicians Surg Pak"},{"key":"B5","first-page":"47","article-title":"Congenital mixed giant hiatal hernia in a four-month-old infant","volume":"33","author":"Jim\u00e9nez Mu\u00f1oz","year":"2020","journal-title":"Cir Pediatr"},{"key":"B6","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1007\/s00247-004-1389-z","article-title":"Late-presenting congenital diaphragmatic hernia in children: a literature review.","volume":"35","author":"Bag\u0142aj","year":"2005","journal-title":"Pediatr Radiol"},{"key":"B7","doi-asserted-by":"publisher","first-page":"97","DOI":"10.1016\/j.ijscr.2019.03.012","article-title":"Incidental Morgagni hernia found during laparoscopic repair of hiatal hernia: case report & review of literature","volume":"57","author":"Hassan","year":"2019","journal-title":"Int J Surg Case Rep"},{"key":"B8","doi-asserted-by":"publisher","first-page":"e281","DOI":"10.1016\/j.athoracsur.2019.04.007","article-title":"Arterial tortuosity syndrome in a term neonate","volume":"108","author":"Zoma","year":"2019","journal-title":"Ann Thorac Surg"},{"key":"B9","first-page":"223","article-title":"Arterial tortuosity syndrome: relevance in pediatric surgery. 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